Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement.
Castori
M
M
Madonna
S
S
Giannetti
L
L
Floriddia
G
G
Milioto
M
M
Amato
S
S
Castiglia
D
D
D010520:Aggressive Periodontitis / Q000235:genetics*; D020789:Cathepsin C / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010214:Papillon-Lefevre Disease / Q000235:genetics*; D011711:Pyoderma / Q000235:genetics*; D012008:Recurrence; D055815:Young Adult
C533918:CTSC protein, human; D020789:Cathepsin C